Michael W. Lawlor, an assistant professor of pathology at the Medical College of Wisconsin, is the first author on a new paper that finds promising results in mice for a treatment of a rare but severe muscle disease.

The study, published in the journal Human and Molecular Genetics , involves a disease called X-linked myotubular myopathy, which is found in about 1 in 50,000 male babies.

The illness, marked by the absence of a protein called myotubularin, leads to muscle weakness that impairs sitting, standing and walking. But infants with the ailment often have difficult feeding. People with the illness may also lack sufficient muscle strength to breathe and may require assistance from a machine.

Using a method called targeted enzyme replacement therapy, the researchers delivered myotubularin to the muscles of mice with the disease and found that the mice showed marked muscle improvement after two weeks of treatment. The treatment was developed by a Massachusetts company called 4s3 Bioscience.

"The next step," Lawlor said, "is to determine appropriate dosage and toxicity before we venture into human trials."

Lawlor, who also works for Children's Hospital of Wisconsin Research Institute, collaborated on the study with researchers from Boston Children's Hospital, Harvard Medical School, Spaulding Rehabilitation Hospital, Virginia Tech University, Wake Forest University, Nationwide Children's Hospital and INSERM, a French biomedical research institute.

About Mark Johnson

Mark Johnson covers health and science. He is a Pulitzer Prize winner and three-time finalist.